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Primary immunodeficiencies (severe)

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchHighest evidence only (82)Meta-analysis (18)Treatment guideline (8)Randomized Research (24)Phase 3 study (20)Systematic review (12)Clinical Research (661)Review article (238)Early study (phase 1 or 2) (8)Case descriptions (290)Laboratory or animal research (22)Commentary or Editorial (18)Retracted publication (1) Studies currently recruiting participants only (34)

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Publications and studies (2086)

• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Heterozygous CTLA4 splice site mutation c.458-1G > C presenting with immunodeficiency and variable degree of immune dysregulation in three generation kindred of Caribbean descent. (2021/10/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. New-onset systemic sclerosis and scleroderma renal crisis under docetaxel. (2021/10/01) ♡
• Primary Versus Secondary NAFLD: Perspective on Advanced Fibrosis. (2021/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Successful engraftment of haploidentical stem cell transplant with post-transplantation cyclophosphamide in a patient with adenosine deaminase deficiency. (2021/09/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing. (2021/09/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Adverse reactions in a large cohort of patients with inborn errors of immunity receiving intravenous immunoglobulin. (2021/09/01) ♡
• Effect of COVID-19 on hereditary angioedema activity and quality of life. (2021/09/01) ♡
• Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths. (2021/08/19) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19. (2021/08/19) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Hallmarks of Cancers: Primary Antibody Deficiency Versus Other Inborn Errors of Immunity. (2021/08/17) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Gut Microbiome and Common Variable Immunodeficiency: Few Certainties and Many Outstanding Questions. (2021/08/02) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. SARS-CoV-2 (COVID-19) in patients with some degree of immunosuppression. (2021/08/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. [SARS-CoV-2 (COVID-19) in Patients with some Degree of Immunosuppression]. (2021/08/01) ♡
• Chemotherapy and mismatch repair deficiency cooperate to fuel TP53 mutagenesis and ALL relapse. (2021/08/01) ♡
• Interleukin-27 promotes autophagy in human serum-induced primary macrophages via an mTOR- and LC3-independent pathway. (2021/07/21) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Delayed Diagnosis of X-linked Lymphoproliferative Syndrome Type 2 in a 17-year-old Male With Severe Crohn's Disease and Recurrent Skin Infections. (2021/07/12) ♡
• A Rare Cause of Double Negative αβ T Cell Lymphocytosis. (2021/07/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Therapeutic and Industrial Applications of Curdlan With Overview on Its Recent Patents. (2021/06/28) ♡
• Challenges to nutrition management among patients using antiretroviral therapy in primary health 'centres' in Addis Ababa, Ethiopia: A phenomenological study. (2021/06/17) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Primary Central Nervous System T-cell Lymphoma as Methotrexate-associated Lymphoproliferative Disorders: Case Report. (2021/06/12) ♡
• Correction: Improved survival and graft function in ex vivo T-cell depleted haploidentical hematopoietic cell transplantation for primary immunodeficiency. (2021/06/01) ♡
• Public health counselling following an HIV diagnosis among men who have sex with men: tensions between individual needs and health protection mandates. (2021/06/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR). (2021/05/01) ♡
• Association between anthropometry and lifestyle factors and risk of B-cell lymphoma: An exposome-wide analysis. (2021/05/01) ♡
• Inhibition of Bitter Taste from Oral Tenofovir Alafenamide. (2021/05/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Cutaneous T-cell lymphoma as a unique presenting malignancy in X-linked magnesium defect with EBV infection and neoplasia (XMEN) disease. (2021/05/01) ♡
• Pediatric Refugee Health and Patterns of Health Care Utilization in Durham, North Carolina. (2021/05/01) ♡
• Adult Primary Antibody Deficiencies and the Lung. (2021/05/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Disseminated gonococcal infection in a Japanese man with complement 7 deficiency with compound heterozygous variants: A case report. (2021/04/02) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Successful Use of Multidisciplinary Palliative Care in the Outpatient Treatment of Disseminated Histoplasmosis in an HIV Positive Child. (2021/04/02) ♡
• HIV TAT-mediated microglial senescence: Role of SIRT3-dependent mitochondrial oxidative stress. (2021/04/01) ♡
• Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Impact of lanadelumab on health-related quality of life in patients with hereditary angioedema in the HELP study. (2021/04/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Use of Complementary and Alternative Medicine in Patients with Primary Immunodeficiency: a Multicentric Analysis of 101 Patients. (2021/04/01) ♡
• NAD(+) supplementation prevents STING-induced senescence in ataxia telangiectasia by improving mitophagy. (2021/04/01) ♡
• Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease. (2021/03/15) ♡
• Acupuncture for HIV-associated distal symmetric peripheral neuropathy: A protocol for systematic review and meta-analysis. (2021/03/12) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Primary hypoparathyroidism in a patient with common variable immunodeficiency associated enteropathy. (2021/03/05) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Implementation of a screening tool for primary ciliary dyskinesia (PCD) in a pediatric otolaryngology clinic. (2021/03/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Immunological deficiencies: more frequent than they seem to be. (2021/03/01) ♡
• Brain damage caused by neonatal hypoxia-ischemia and the effects of hypothermia in severe combined immunodeficient (SCID) mice. (2021/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Successful chemotherapy with liposomal doxorubicin for metastatic Kaposi's sarcoma without skin involvement in the kidney transplant recipient. (2021/03/01) ♡
• Validation and Optimization of Host Immunological Bio-Signatures for a Point-of-Care Test for TB Disease. (2021/02/26) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. A robust multiplexed assay to quantify C1-inhibitor, C1q, and C4 proteins for in vitro diagnosis of hereditary angioedema from dried blood spot. (2021/02/20) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Primary Immunodeficiencies: A Decade of Progress and a Promising Future. (2021/02/18) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Dissection of the Pre-Germinal Center B-Cell Maturation Pathway in Common Variable Immunodeficiency Based on Standardized Flow Cytometric EuroFlow Tools. (2021/02/17) ♡
• A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency. (2021/02/15) ♡
• Selenium levels and glutathione peroxidase activity in patients with ataxia-telangiectasia: association with oxidative stress and lipid status biomarkers. (2021/02/12) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India. (2021/02/08) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. B Cell Dysregulation in Common Variable Immunodeficiency Interstitial Lung Disease. (2021/02/05) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. A Structural Guide to the Bloom Syndrome Complex. (2021/02/04) ♡

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